Down Syndrome Diagnosis: The Choice In The Unknown

I hate hospitals. I dislike the sterile feel, the winding hallways, the beeps, the snap and rustle of plastic. Even more than that, I feel out of control. I personally experience hospitals this way, I can’t help it. I can’t ever seem to shake the feeling that I’m being shuttled down a preordained path.

For all the informed consent forms that I have signed in the hospital, I never felt like I had much true agency. For me, the hospital path felt like being lured with impossible amounts of information down a series of staged forks in the road—one side would have a sign signifying “Better Choice”, and one side had a bunch of weeds choking the path. It was always so difficult to know what was the doctor, what was my lack of medical knowledge, what was actually evidence based practice, and what was social pressure. What was uncommon versus wrong?

Remembering…

When I was 16 weeks pregnant with Mouse, our doctor encouraged us to do the prenatal blood screenings, before it was “too late”. At that time, we were offered the quad screen that gave the statistical likelihood that I carried a baby with Trisomy 21, Trisomy 18, spina bifida, or ancephaly. We had already decided not do those screenings and informed the doctor as much. He sat back in his seat and uttered a very perfunctory, “Well that is your choice”. He did not hesitate to say that we could call if we changed our minds.

Despite that the doctor never took the time to actually discuss those screenings, the sign read clearly in my mind. We could decline those screenings, but we would be going against common practice. Go that way, it is better. There was no emotional space in the room for us to choose differently; the path to declining that prenatal testing was choked with weeds. Was it because testing was truly a better practice, or was it because of a commonly held belief that some babies were better off not born? Would it help me mentally prepare, or add unneeded anxiety?

Even deeper than the issue of abortion, was a different, more fundamental assumption: The culture of modern medicine thinks more information is nearly always better. We assume that more information leads to more choices. Having more information and more choices can only be good.

Our late Down syndrome diagnosis was a story of less information and fewer choices…

Our diagnosis story was different from most. No one “broke the news” to us. I was the one who first saw that first flicker in LP’s face. I was the one who uttered the words “Down syndrome” to my husband. LP was nearly three months old by time we got the results. By then, it only confirmed what we had already accepted—our child has Down syndrome.

Our Down syndrome diagnosis came as a surprise. I had no complicating health conditions and an uneventful pregnancy. Had we gotten hospital prenatal care, something may have shown up on an ultrasound, but I had no medical indication to get one. The fact that my baby was growing inside of me with 47 chromosomes was a medical non-issue until well after his birth. The simple act of being in a hospital would have probably caused us to find out about LP’s Down syndrome much earlier as well. There are so many people who come in contact with a newborn baby, I’d guess that someone would have suspected and suggest we do a karyotype.

Our friends and family were understandably shocked when we announced that LP has Down syndrome. Heck, when we started suspecting, we were shocked; it just wasn’t on our radar. People have asked me if I’m angry that no one “caught it”, if I’m angry at our midwife for not seeing it, if I’m angry that we were blindsided.

No, a thousand times, I’m not angry. Looking back, we weren’t blindsided at all. There were subtle signs all along. I’m grateful that we figured it out on our own. It gave us time to meet our baby, to digest those subtle signs in our own ways. Not that anyone can really prepare for accepting such news, but I believe that by the time we got that karyotype back, we were as ready as we ever would be.

I found beauty in the fact that I knew very little about my child at birth. In fact, the minute he was born, he wasn’t even a “he” yet. My brand new child. No gender, no diagnosis, no personality yet. Each moment that clicked by, I learned something new.

He’d be a boy. He had a full head of hair. He looked like Chipmunk.

He slept a lot. He had huge hands, long fingers. His father’s monkey toes.

He didn’t like hats. He liked sleeping on his side. He was a slow nurser.

He hated baths. He had a quiet cry. He loved being swaddled.

His eyes… whose eyes were they?

You see? Slowly, slowly, he revealed himself to us. Bit by bit, we came to know him. One day, we added “Down syndrome” to that list of things we knew about our son. We acquired information when we were ready.

Seeing past the weeds…

Last week I went to our local Down syndrome group to take part in the beginnings of a medical outreach program. Until now, our experience seemed so unusual that it didn’t even seem like I could contribute to most diagnosis discussions, but lately I’ve questioned that assumption.

I wonder… In the absence of pressing medical concerns, do parents have to get that karyotype right away? Do they have to digest the possibility of Down syndrome the same day they give birth? Is it always better to have the most information at the earliest possible moment? We decided that prenatal testing wasn’t right for us, because having that information didn’t alter the course of our pregnancy. Couldn’t that same logic inform a family’s choice to pursue a postnatal Down syndrome diagnosis?

That path could be weedy and not often used, but it seems like a valid option to me.

I remember very clearly that our midwife and pediatrician said we could get a karyotype if we wanted, but that there was no urgent need to do it. I’d had a healthy pregnancy, labor, and delivery. They did think that we should get an ECHO done on his heart if we did think he had Down syndrome, but neither saw any oxygenation issues that would need an immediate look.

I understand that we are not representative of the average family in this regard. We chose to decline more information than most others would. I do get that there are some families who will do better knowing as much as they can, as early as they can. This boils down to a personal approach to life, and of course both are valid. I also understand that had LP had medical issues needing immediate attention at birth, our calculus would have changed.

But… What if…

A doctor knew a family’s personality well enough to wait a day before bringing up the possibility of Down syndrome?

A doctor sat with a family as long as it wanted to answer questions about Down syndrome? (Our midwife came and sat with us for three hours and our pediatrician talked to me on the phone for 30 minutes, but I’d be willing to bet that many doctors don’t stay past a few minutes to deliver the news.)

The doctor asked a family if it wanted to get that karyotype done, instead of told the family when?

For many, these different approaches may not alter the actual course of events, but I do wonder if it would change the quality of the experience. Even a little bit more control and understanding could go a long way.

I imagine that there are some who are reading this and think that we were simply lucky that no health issues were present during pregnancy and at birth. Yes, I agree that not all babies are like LP (T21 or not). I’d like to say, however, that we NEVER declined information at the cost of health and safety. Our midwife monitored my pregnancy for all health related concerns and we had more postpartum care than most people get in hospitals. Had immediate medical needs presented at LP’s birth, our calculus would have changed. I don’t want anyone to get the impression that we thought it was ok to blithely decline necessary medical care, so I’d be happy to answer questions about our experience in the comment section.

I’m not writing about this to imply that others need to do as we did. Everyone has different needs, different values, beliefs. The point I want to make is that as much as it is valid to want information, I think it is equally valid to decline information. I think that path is so seldom taken in our culture that too many weeds have grown up around it; we don’t see that there is an option to wait, to temporarily not know. Sometimes, not knowing is ok. Sometimes, having fewer choices is ok.

We ended up on this path by chance, but I want others to know that I’m glad we took it. Declining information led to fewer, but better choices for us. I needed to close my eyes, look in and see what I already knew before I looked ahead.

33 Comments on “Down Syndrome Diagnosis: The Choice In The Unknown”

Thanks for your powerful post. You’ve had a most unusual journey with LP.

I’ve discussed the value of prenatal testing with several moms of kids with special needs; we’re pretty much split down the middle. I knew my baby had Ds from the amnio (with no previous testing) and I’m grateful that I had time to process it before she was born. However, I also knew that I would not have terminated the pregnancy, no matter what.

Yes, I definitely can see why people would want to know. I’ve often thought of what we would do if we have another kid, and I’m not entirely sure. But I wish it weren’t becoming the unquestioned standard. That bothers me.

It was under duress that I had the amnio (long, complicated, ridiculous story) but in the end of it all I was glad to be able to hit the ground running when she was born. Services here in Ontario are often wait-listed but because I knew she had Ds when I was pregnant, I could hound the healthcare people and I was successful. She had her first assessment at when she was less than a month old whereas most babies are assessed at three months or so.

And I totally agree with you that testing should not be the unquestioned standard. The stat is something like 94 per cent of women who test positive for Ds on an amnio have an abortion (not sure if it’s true). It’s extremely disheartening and borders on eugenics as far as I’m concerned.

I agree about it being disheartening and some of what goes on its definitely eugenics. That 94%, as far as I know, however is the percentage of people who have done amnio or CVS, and they are much more likely to terminate, period. It doesn’t account for all the women who don’t do testing because they won’t terminate.

I feel like this is true of pretty much anything in the medical community. We have seen lots of different doctors and specialists, and I think that what I have learned from being pushed down that “clearer path” is to never be afraid to stand up and shout, “I want to see what is through the weeds!” Before, I would have trusted that the doctor’s know what’s best for my child, but now I know that isn’t always the case. It’s funny how I had such a different experience, but sort of ended up in the same place.

I love hearing other people’s thoughts on this. I don’t know if you’ve read much of my back story, but we didn’t find out Daniel had Ds until after her was born- nothing on any of the ultrasounds indicated anything was wrong, and I declined other testing for a lot of reasons. It was definitely the right decision for us, even though his diagnosis was not a slow process. I knew as soon as he opened his eyes at me.

Anyway, my big anatomy scan for this pregnancy is coming up so I had to choose again whether to do testing and once again we opted not to. I love information, but I’m also a big fan of “cross that bridge when we get there.”

I’ve thought a lot about what we would do if we ever had another child. I’m a big fan of that “cross the bridge when we get to it” kind of approach. Life is such a twisty road, I’ve given up trying to prepare too far in advance!

There is a lot of good stuff in this post. Once again I feel better off having read your post. One thing I really liked was your description of how your son revealed himself to you. Although there are some unique aspects in your story I think this is something we all experience in one way or another. A problem with the diagnosis is that most assume the child has a predestined future. Not true at all. The child with 47 chromosomes are just as unique as those with 46 chromosomes.

Couldn’t agree more about the predestined future. Same reason most parents (me included) are so desperate to know when milestones will happen once the diagnosis comes. I wanted so badly to know where he would end up in five, ten, twenty years. But just like our other kids, there’s no way to know that kind of thing. Cheers to our boys!

We had a very different experience – found out that Theo had Down syndrome at 27 weeks or so due to some serious medical conditions. The medical conditions meant that he spent the first 8 out of 9 months in the NICU. During that time, I got to know parents of children with Trisomy 13, 18, and even mosaic 4, as well as Cornelia de Lange syndrome and other genetic mutations. Some of us knew before our babies were born, and others not until birth. We talked a lot about which was better – a question with no answer, of course, because it’s different for everyone. There seem to be advantages and disadvantages to both. All said, I think I would’ve liked to wait and not process the diagnosis during those last months of pregnancy so that he would not have experienced the grieving so directly. But he and I were able to experience the birth without those complicated feelings, because I had come at least in part to acceptance by then. But we live in Japan and “it is what it is” is the philosophy of choice, so planning and control isn’t at the top of the list.

I’ve lived in Japan for 24 years now and have come to see a very different side of Japan since Theo was born. In Japan, it’s very important for everyone to fit into a certain box so that people know how to interact with each other. And having a child with a disability throws people out of the box they’ve been in, so I think it can be quite difficult for families to process emotionally. Then again, the new box gives you a new home, so to speak. And that can be comforting. In terms of how it’s discussed, the language is changing similarly to how it is in the States – person-first, etc. and there’s even the equivalent with Down syndrome of all the “angel” talk with kids referred to as Down-chan (a cute diminutive). That stuff rankles me in English or Japanese. I think there is still the lingering shame of “imperfection,” the brunt of which falls with on the mother. But that is changing as the populations with Down syndrome and autism grow.

Theo’s been at a school for kids with disabilities (not sure the equivalent in the States) since he was a year old. What’s most fascinating for me is seeing the special education teachers struggle with the friction between Western and Eastern ways of thinking. Special education here is modeled on the US style, and these teachers are learning methods that are very different from the conventional Japanese methods of education. It’s intriguing to me, because it’s similar to (and the opposite of) what my husband and I – both Americans – deal with just living here.

Having said that, my entire perspective may completely change from April when Theo will start going to mainstream public Japanese kindergarten. We haven’t dealt much with Japanese families without kids with disabilities who we didn’t already know before he was born. Wish us luck!

I know this is already too-blog-long, but one thing I struggle with is Theo’s simultaneous foreignness and disability. He’s the blond-haired, blue-eyed Western kid that Japanese people love to coo over, and I’m grateful that he’s having this experience at this young age of being seen as a foreigner rather than a kid with a disability. Partly because I know what it’s like to be looked at as a foreigner, but not as someone with a disability first and foremost. (I have no illusion that in Japan he’ll be seen as person first and foremost.) At the same time, I’m not sure if this will be good or bad for him in the long run. Probably both, and neither.

Give Latkes my “Otsukaresama” wishes. Did he study in Kyoto by any chance? I was there at university for quite a while.

Sorry for the length of this post.

p.s. Loved the looking slanted post. I’ve been looking for a similar phrase in Japanese, thinking maybe it came here via Korea or China.

I really enjoyed reading about your experience and observations. Didn’t know you’d been there for so long! Yes, actually he did live in Kyoto. Whata small world. He did a full year in Kyoto then lived on an island somewhere further south… The name escapes me right now.

I’m so curious to know how the foreigner experience intersects with Theo’s Down syndrome, and what his experience of kindergarten will be. I hope you share. :)

Loved reading your thoughts on this. I declined the testing even though I had a gut feeling something was different. I had three ultrasounds during the pregnancy and none of them “caught” anything. I feel everything just happened the way it did for a reason.
We weren’t told until the day after Russell was born that they suspected Ds. I was always thankful for the one peaceful night I spent with Russell before finding out. One thing I wish was done differently, was that after you find out your child has Ds you weren’t slammed with all the many medical things your child “may” face. It just creates such a panic in most parents and they don’t realize that many of those medical issues may never even arise for their child. I don’t think a shit load of information right off the bat is always the right way. Just my opinion though.
Great post!!

Totally agree on the information overload. I went Dr. Google wild right after we found out and we didn’t need 90% of that information. I remember now about your feelings about Russell being different. I really do think that our animal instincts are still in there, I’m not at all surprised to think your body knew somehow.

Great post! As you know, I declined prenatal testing. I just knew that I shouldn’t have it done it and now I know why. I like your ideas on the approach from medical personnel on how to deliver such news to parents. I just got done being on bed rest in the hospital for 3.5 weeks, had Camden at only 31 weeks old, watched him be taken away to the NICU, and then was given the “news”. I wonder if I was given just 24 hours if it would have changed the way I bonded with my son. Interesting thought….

I didn’t know that, yes, I’m so very curious how that extra little bit of time could impact people. Funny, how those memories feel far away but just like yesterday, huh? Just reading about yours makes me imagine what it must have felt like to absorb so much all at once.

Such a beautiful, beautiful post. I can relate to so much of it. As you know, Finn was also born at home with a midwife present, and we had declined all prenatal screenings, except for an ultrasound because I wanted to know the baby’s gender, and I wanted to make sure there were no obvious anomalies that would preclude a safe home birth. The ultrasound didn’t detect anything out of the ordinary, and when I was pregnant again a few years later with Scarlett, the same woman performed my ultrasound and apologized for not having picked up that Finn had Ds when I was pregnant with him. It made me sad that she assumed we were disappointed or angry or anything at all that Finn’s Ds was not detected before he was born. We didn’t didn’t have as long as you did after he was born before his diagnosis was definitively delivered to us because he was actually born with a condition that needed immediate medical attention, but we did have a day with him before we suspected. And the first inkling came from Finn himself, when he gazed at me and I saw it in his face. At the time, my blood ran cold in that moment, but now, I hold that memory as very precious. I’m glad that he was the first one to tell me. By that time, based on certain observations, my midwife also suspected, but she was very gentle in her approach with us. And even in the NICU, when Finn was recovering from surgery and the geneticist delivered the news to us that he had Ds, she was very kind and compassionate. I’m grateful for that.

I agree with you so much that knowing as much as possible as soon as possible is not always right for everyone. When I found myself pregnant again at 44, I knew my risk factors were way up there, but again, we declined prenatal screenings and planned a home birth. If our baby was going to by atypical in any way, I wanted the news to come from her, as Finn’s had come from him. I felt absolutely no compulsion to find out anything – except her gender! – before she was born. That just felt right to us.

I would be so curious to now how many families want testing after having a kid with Ds and who doesn’t. Based on stories, it seems to me that people cleave one way or another (lots less info or lots more), but anecdotes aren’t actual evidence.

I so relate to that feeling about the first time seeing “it”. I felt awful that first time too, but it was because of all the messed up ideas I had. Now with some hindsight that moment feels precious for me too.

Wonderful post and an option that I think is novel and not commonly thought of. I know based on how our diagnosis was delivered that I envy your ability to get to know your son and have his Down syndrome revealed to you. We received our postnatal diagnosis almost instantaneously (literally, our daughter had just had her APGAR scores and was being weighed). The only concept I had of our daughter not also having Down syndrome was during the pregnancy and about 2 minutes after she was born. But, as you say, this is all based on personal needs and my envy of your not-knowing is not likely to be shared by others who would want to know.

The recommended best practices in delivering a diagnosis, however, are as soon as possible. As odd as an ASAP situation as this may seem, it is based on parents perceiving that the medical staff has suspicions that they aren’t telling them about their baby when the medical staff suspect Down syndrome. You pose a very relevant question that should be asked: do we need to deliver the diagnosis ASAP? Again, as you recognize, in the case of where it is medically relevant and there are associated health concerns, then likely, yes. But in the case of your son and in our case with our daughter, where there were no other attendant health concerns, perhaps there should be the consideration of offering to discuss a possible genetic diagnosis to allow the parents whether to choose to have that news at that time or later.

I know I would have enjoyed knowing my daughter just as she is, before a medical label was affixed to her beyond “female.”

I didn’t know that the recommended best practices are to deliver the diagnosis as soon as possible. Here, I have to think that the rushed, impersonal nature of modern medicine doesn’t account for people’s individual needs and quirks. Not only that, I have to wonder, if T21 weren’t so stigmatized, then would patients feel like doctors were “holding out on them” for waiting? I look at our homebirth experience and draw on a lot of philosophical and practical differences in how medical care is given. We had hour long (often even more) visits, in our home with our midwife during our pregnancies. When our kids were born, they were not weighed and examined until well after birth, the thinking being that the very initial seconds, minutes, hour of time is critical for bonding and establishing breastfeeding. If there were signs of distress, of course they’d intervene, but otherwise, APGAR scores can be measured very discreetly, and an infant’s weight half an hour, or an hour after birth isn’t going to change so significantly. So the entire thinking around handling a birth, treating the baby and mother, what is important and not important, is very different.

I really can see how some people’s personalities would do better with knowing right away, but I just don’t see the rush to go look for it, to shine a harsh light on it during those raw moments unless it is actually going to benefit the family.

Thank you for the comment, the best practice guideline that you shared has me pondering even more.

I have an acquaintance who found out at 9 months old also after a home birth. With Cora I learned it from her face for the first time after our home birth but it was with my first glance. We did choose a karyotype right away but she also ended up in the Nicu on day 2 and it would have probably been inevitable anyway. I like the option of giving families time and space as an option when there is no real urgency. it seems that so many find that urgency in their fear. Perhaps that’s why the idea of discovering it gradually has appeal. Knowing your child first really helps to remove that fear.

Yes, I hear this over and over again with women who had prenatal diagnoses, that it is hard to work through the feelings because they haven’t met their babies yet. Do you wish you had known earlier, to prepare for the idea of a NICU stay? I can see that appeal, as well as the idea that you’ve worked through some of the feelings already before meeting your baby. But yes, just the choice of waiting and not knowing doesn’t seem to be as viable, and I know that it suited us well.

This is beautifully written as always. I’m not sure how I missed it on the day of publication! I love your thoughts and I share many of them. I feel a little taken aback by our culture’s need, absolute urgent need, to find out what’s inside that “black box” that is the womb as soon as possible, starting with the gender. From the comments we received when pregnant with twins, I got the sense we were the only family in our Tri-state area to NOT find out the genders prenatally. How could you live with such double uncertainty, people would ask?

If only they had known what other surprise was awaiting us! I too discovered my own son’s Ds before anyone told me. It was an odd situation. I had to have a rather traumatic emergency C-section with the twins due to an infection, and then had to be knocked out cold for the sewing up b/c I could feel it. I woke up briefly to see my husband and hear that the babies were fine; I couldn’t hold them b/c they were in the NICU due to being slightly preterm. Then I drifted back to sleep and somehow slept the entire night away; the last long peaceful sleep a mom of twins ever had.

Next morning, no one was around and I drifted down to the nursery, where I immediately spotted my son’s Ds just from looking at him. Even my husband hadn’t called to tell me about it, though the docs had told him their suspicions the night before and they wanted to tell me right away. He said they should wait, and I’m glad he did that. At least I didn’t have everything thrown at me at once.

But I have come around to the reasons why some people like to know in advance; it’s not all cynical. My wonderful OB/Gyn told me most of her patients just want to know to be prepared and shared a story about a friend of hers who was glad she knew prenatally, She had a demanding job and was able to line up better care for her daughter and plan for more time off than she would have had she not known. I’m sure she could have done the same on the fly, but she sounded like the type of person who likes to be prepared. Like you said, it really depends on the personality. Thank you for allowing me this space to blather on.

After hearing so many horrific stories, yours is a relief. We were blindsided when I lost my first and I was fervently pro-testing after, but in a freak bit of luck my quad screen was negative. It wasn’t until they found the giant hole in my girl’s heart a few months later did we get the amnio and a dx. In the meantime she had started kicking. The thought of losing ANOTHER baby made the Ds colossally unimportant. Time & perspective are such gifts.